If you uploaded a variant set on Nov 29, 2023, your submission might have been lost. A problem has been fixed. Please simply upload the original query file. Sorry for the inconvenience.
Other applications using/annotating CADD
- gnomAd: variants from population studies (15k WGS on GRCh37, 60k WGS on GRCh38)
- Bravo/TOPMed: variants from WGS variant calls for currently ~60k people from GWAS studies
- Ensembl VEP: genome variant annotation platform
- dbNSFP: database for many different annotations
- PopViz: webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
This section primarily covers annotations that have been added since the v1.4 release. For more information about older annotations please see our manuscript.
- PhastCons and PhyloP: using muliz*way alignment from UCSC, processing according to UCSC/Kentlab without human
- GERP based on multiz100way alignment
- Encode Annotations, using data from reference epigenomes like this
- ChromHMM: in GRCh38 using 25 state Roadmap/Encode model
- Regulatroy Build from Ensembl server